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Study design and description of patients

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Abstract

A West German multicentre study (eight centres) of PKU was designed in 1976. The subjects of the study are the differential diagnosis, factors influencing the therapeutic outcome, and the extension of dietary therapy into adolescence. Between 1978 and 1984, 165 patients were enrolled, of whom 38 were of non-German nationality. The educational and occupational status of the West German parents were comparable to the population of the Federal Republic of Germany. In the central data bank located at the University Childrens Hospital in Heidelberg, data from recurrent medical examinations and from biochemistry, dietetics, neurology, psychometry and demography were collected. The differential diagnosis of the elevated plasma Phe level in the newborn period resulted in the detection of 2 patients with a PTPS-deficiency, and of 163 with an apo-enzyme defect. Depending upon the magnitude of the Phe levels during the first weeks of life, preliminary treatment groups were formed. They were revised at the age of 6 months with a protein challenge. The levels of Phe during the protein challenge resulted in three types of response. Of these, type III can apparently forgo dietary restrictions resulting in plasma Phe concentrations of around 10 mg/dl. Preliminary results of the whole study are now presented.

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Abbreviations

BH4 :

tetrahydrobiopterin

CNS:

central nervous system

DHPR:

Dihydropteridine reductase

EEG:

electroencephalogram

HPA:

hyperphenylalaninaemia

IQ:

intelligence quotient

PAH:

phenylalanine hydroxylase

Phe:

phenylalanine

PIQ:

performance intelligence quotient

PKU:

phenylketonuria

PTPS:

6-pyruvoyltetrahydropterin synthase

RA:

residual activity

SD:

standard deviation

TIQ:

total intelligence quotient

Tyr:

tyrosine

VIQ:

verbal intelligence quotient

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Authors and Affiliations

  1. Zentralinstitut für Labormedizin, Kreiskrakenhaus Böblingen, D-7030, Böblingen, Federal Republic of Germany

    P. Lutz

  2. Kinderklinik, Ruprecht-Karls-Universität Heidelberg, Im Neuenheimer Feld 150, D-6900, Heidelberg, Federal Republic of Germany

    Hildgund Schmidt & U. Batzler

Authors
  1. P. Lutz
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  2. Hildgund Schmidt
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  3. U. Batzler
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Lutz, P., Schmidt, H. & Batzler, U. Study design and description of patients. Eur J Pediatr 149 (Suppl 1), 5–12 (1990). https://doi.org/10.1007/BF02126292

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